rs80357524

minus

Geno	Mag	Summary
(-;C)	6	BRCA1 variant considered pathogenic for breast cancer
(C;C)	0	Normal

Make rs80357524(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093098

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357524
dbSNP (classic)	rs80357524
ClinGen	rs80357524
ebi	rs80357524
HLI	rs80357524
Exac	rs80357524
Gnomad	rs80357524
Varsome	rs80357524
LitVar	rs80357524
Map	rs80357524
PheGenI	rs80357524
Biobank	rs80357524
1000 genomes	rs80357524
hgdp	rs80357524
ensembl	rs80357524
geneview	rs80357524
scholar	rs80357524
google	rs80357524
pharmgkb	rs80357524
gwascentral	rs80357524
openSNP	rs80357524
23andMe	rs80357524
SNPshot	rs80357524
SNPdbe	rs80357524
MSV3d	rs80357524
GWAS Ctlg	rs80357524

Max Magnitude

6

rs80357524, also known as 2552delC, c.2433_2433delC and p.Pro811=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357524(-;-)
Alt	rs80357524(-;-)
Reference	Rs80357524(C;C)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41245115delG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031050.7, RCV000047838.5, RCV000129993.3, RCV000236325.2,